Canonical Allele Identifier: CA1536342

Gene: NBAS

Linked Data

• dbSNP Id: rs762172986
• ExAC: 2:15564524 C / A
• gnomAD v2: 2-15564524-C-A
• gnomAD v4: 2-15424400-C-A
• MyVariant Identifiers: chr2:g.15564524C>A (hg19) ; chr2:g.15564524_15564525delinsAT (hg19) ; chr2:g.15424400C>A (hg38) ; chr2:g.15424400_15424401delinsAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424400C>A , CM000664.2:g.15424400C>A	GRCh38
NC_000002.11:g.15564524C>A , CM000664.1:g.15564524C>A	GRCh37
NC_000002.10:g.15481975C>A	NCBI36
NG_032964.1:g.141949G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.589G>T
ENST00000700062.1:c.589G>T
ENST00000700065.1:n.2505G>T
ENST00000700066.1:c.2009G>T	ENSP00000514780.1:p.Arg670Met
ENST00000281513.10:c.2492G>T MANE Select	ENSP00000281513.5:p.Arg831Met
ENST00000281513.9:c.2492G>T	ENSP00000281513.5:p.Arg831Met
NM_015909.3:c.2492G>T	NP_056993.2:p.Arg831Met
NR_052013.2:n.2536G>T
XM_011510357.1:c.2363G>T	XP_011508659.1:p.Arg788Met
XM_011510358.1:c.2492G>T	XP_011508660.1:p.Arg831Met
XM_011510359.1:c.1853G>T	XP_011508661.1:p.Arg618Met
XM_011510360.1:c.293G>T	XP_011508662.1:p.Arg98Met
XM_011510361.1:c.284G>T	XP_011508663.1:p.Arg95Met
XM_011510357.2:c.2363G>T	XP_011508659.1:p.Arg788Met
XM_011510358.2:c.2492G>T	XP_011508660.1:p.Arg831Met
XM_011510360.2:c.293G>T	XP_011508662.1:p.Arg98Met
XM_011510361.2:c.284G>T	XP_011508663.1:p.Arg95Met
XM_017004317.1:c.2492G>T	XP_016859806.1:p.Arg831Met
XM_024452961.1:c.1853G>T	XP_024308729.1:p.Arg618Met
NM_015909.4:c.2492G>T MANE Select	NP_056993.2:p.Arg831Met
NR_052013.3:n.2522G>T